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Disease Ontology Browser
mucopolysaccharidosis III (DOID:12801)
Synonyms: heparan sulfate sulfatase deficiency; MPS IIIA - Sanfilippo syndrome A; MPS IIIB - Sanfilippo syndrome B; MPS IIIC - Sanfilippo syndrome C; MPS IIID - Sanfilippo syndrome D; mucopolysaccharidosis type IIIA; mucopolysaccharidosis type IIIB; Mucopolysaccharidosis, MPS-III; Mucopolysaccharidosis, MPS-III-B; N-acetyl-alpha-D-glucosaminidase deficiency; N-sulphoglucosamine sulphohydrolase deficiency; naglu deficiency; Sanfilippo syndrome A; Sanfilippo syndrome B; Sanfilippo's syndrome
Alt IDs: OMIM:252900, OMIM:252920, OMIM:252930, OMIM:252940, DOID:14729, DOID:14788, ICD10CM:E76.22, MESH:D009084, NCI:C61262, NCI:C84897, NCI:C84898, ORDO:581, UMLS_CUI:C0026706, UMLS_CUI:C0086647, UMLS_CUI:C0086648
Definition: A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme resulting in incomplete breakdown of the heparan sulfate sugar chain.

Disease References using Mouse Models (9)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
08/15/2017
MGI 6.10
The Jackson Laboratory